Kian Hong Kock

TL;DR: Novel approaches for characterizing functional binding site motifs that promise to inform the understanding of how TF binding controls gene expression and ultimately contributes to phenotype are highlighted.

TL;DR: In this article, a computational, structure-based approach was developed to evaluate TF variants for their impact on DNA binding activity and used universal protein-binding microarrays to assay sequence-specific DNA binding activities across 41 reference and 117 variant alleles found in individuals of diverse ancestries and families with Mendelian diseases.

TL;DR: It is proposed that the majority of the RBC-trait-associated variants that reside on transcription-factor-binding sequences fall in STF target sequences, suggesting that the phenotypic variation of RBC traits could stem from altered responsiveness to extracellular stimuli.

TL;DR: In this article , the second largest class of DNA binding domains (DBDs) among eukaryotic sequence-specific transcription factors (TFs) were analyzed for their effects on DNA binding activity.

TL;DR: Monopogen as mentioned in this paper leverages linkage disequilibrium from external reference panels to identify germline SNVs from sparse sequencing data and uses Monovar to identify novel SNVs at cluster (or cell type) levels.